Xia-gibbs syndrome

Preferred Label : Xia-gibbs syndrome;

Symbol : XIGIS;

CISMeF acronym : MRD25; XIGIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRD25; Mental retardation, autosomal dominant 25;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the AT-hook DNA-binding motif-containing protein 1 gene (AHDC1, 615790.0001);

Prefixed ID : #615829;

Details

Origin ID

615829;

UMLS CUI

C4014419;

CISMeF manual mappings
- Xia-Gibbs Syndrome [DO Concept]
Currated CISMeF NLP mapping
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome [ORDO Disease]
- AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) [SNOMED CT concept]
- Xia-Gibbs Syndrome [NCIt concept]
DO Cross reference
- Xia-Gibbs Syndrome [DO Concept]
Genes related to phenotype
- At-hook dna-binding motif-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed myelination [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Esotropia [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Laryngomalacia [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Obstructive sleep apnea [HPO term]
- Retrocerebellar cyst [HPO term]
- Simplified gyral pattern [HPO term]
- Snoring [HPO term]
- Uplifted earlobe [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome [ORDO Disease]
- AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) [SNOMED CT concept]
- Xia-Gibbs Syndrome [DO Concept]
- Xia-Gibbs Syndrome [NCIt concept]

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